Cengiz Gömleksiz1, Erhan Arslan2, Selçuk Arslan3, Serhat Pusat4, Elif Acar Arslan5. 1. Department of Neurosurgery, Mengucekgazi Training and Research Hospital, Erzincan University, Erzincan, Turkey. 2. Department of Neurosurgery, Giresun University, School of Medicine, Mumcular Sok. N: 1/1, Merkez PC: 28100 Giresun, Turkey. arserhan@gmail.com. 3. Department of Otorhinolaryngology, Kanuni Training and Research Hospital, Trabzon, Turkey. 4. Department of Neurosurgery, Gülhane Military Medical Academy, Ankara, Turkey. 5. Department of Pediatric Neurology, Hacettepe University, School of Medicine, Ankara, Turkey.
Abstract
OBJECTIVE: To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis. CASE REPORT: We report a 24-year-old man with cleidocranial dysplasia admitted with hearing loss, rhinolalia, dyspnea and fatigue. Partial absence of clavicles, a bell-shaped ribcage, an open frontal fontanel, unerupted permanent teeth and broad sutures were identified at radiographic examination. CONCLUSION: Cleidocranial dysplasia is very rare, and is commonly missed or diagnosed late. Radiographic findings are essential for diagnosis. An open frontal fontanel is a particularly important finding for neurosurgeons in diagnosis. We describe this rare case and discuss the clinical features of CCD.
OBJECTIVE: To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis. CASE REPORT: We report a 24-year-old man with cleidocranial dysplasia admitted with hearing loss, rhinolalia, dyspnea and fatigue. Partial absence of clavicles, a bell-shaped ribcage, an open frontal fontanel, unerupted permanent teeth and broad sutures were identified at radiographic examination. CONCLUSION:Cleidocranial dysplasia is very rare, and is commonly missed or diagnosed late. Radiographic findings are essential for diagnosis. An open frontal fontanel is a particularly important finding for neurosurgeons in diagnosis. We describe this rare case and discuss the clinical features of CCD.